Gene mutation detection for a patient with anhidrotic ectodermal dysplasia
- VernacularTitle:无汗性外胚层发育不全患者EDA基因突变检测
- Author:
Yunna GAN
;
Zhongyi WANG
;
Sumin CHEN
- Publication Type:Journal Article
- Keywords:
Anhidrotic/hypohidrotic ectodermal dysplasia;
EDA gene
- From:
Journal of Practical Stomatology
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objetive:To detect the gene mutation of a patient with anhidrotic ectodermal dysplasia. Methods: Genomic DNA was extracted from the peripheral blood of the patient and all the exon fragments were obtained by PCR. These fragments were sequenced directly. Results: In EDA gene a novel base transition was detected: -48A→G. Conclusion: There is a new base transition in EDA gene in this patient
